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Korean Journal of Ophthalmology ; : 316-318, 2012.
Artigo em Inglês | WPRIM | ID: wpr-194313

RESUMO

Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.


Assuntos
Feminino , Humanos , Recém-Nascido , Anormalidades Múltiplas/genética , Cromossomos Humanos Par 14 , Mosaicismo , Doenças Retinianas/congênito , Trissomia
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